Incidental Mutation 'IGL01444:Haus2'
ID84373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Haus2
Ensembl Gene ENSMUSG00000027285
Gene NameHAUS augmin-like complex, subunit 2
Synonyms1700101G24Rik, Cep27, 2410007P03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.887) question?
Stock #IGL01444
Quality Score
Status
Chromosome2
Chromosomal Location120609383-120621560 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 120615942 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Lysine at position 115 (R115K)
Ref Sequence ENSEMBL: ENSMUSP00000106334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028741] [ENSMUST00000110706] [ENSMUST00000124187]
Predicted Effect probably benign
Transcript: ENSMUST00000028741
SMART Domains Protein: ENSMUSP00000028741
Gene: ENSMUSG00000027285

DomainStartEndE-ValueType
Pfam:HAUS2 4 67 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110706
AA Change: R83K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106334
Gene: ENSMUSG00000027285
AA Change: R83K

DomainStartEndE-ValueType
Pfam:HAUS2 1 199 2.4e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124187
AA Change: R115K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000117299
Gene: ENSMUSG00000027285
AA Change: R115K

DomainStartEndE-ValueType
Pfam:HAUS2 5 215 1.2e-62 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik T G 11: 23,620,225 probably benign Het
Adad1 A T 3: 37,092,034 N517I probably damaging Het
Adam25 G A 8: 40,754,921 R408H probably benign Het
Ang C A 14: 51,101,667 Y88* probably null Het
Ankrd42 T C 7: 92,610,585 T327A probably damaging Het
Birc6 A G 17: 74,631,687 D2696G probably damaging Het
Chd3 G A 11: 69,348,742 T1717M probably benign Het
Csmd1 T A 8: 16,200,055 M970L probably benign Het
Dhx32 T C 7: 133,748,977 I121M possibly damaging Het
Dnah11 G A 12: 118,020,232 S2506F possibly damaging Het
Dscam T A 16: 96,673,709 I1218F possibly damaging Het
Duox1 T C 2: 122,340,090 L1197P probably damaging Het
Eps8l2 T C 7: 141,361,375 probably benign Het
Exoc3 T C 13: 74,206,935 K49R probably damaging Het
Exoc8 T A 8: 124,895,841 T596S possibly damaging Het
F13a1 C T 13: 36,918,577 G391R probably null Het
Fam35a C A 14: 34,237,557 V823F probably damaging Het
Fat3 A T 9: 15,998,848 S1953T probably damaging Het
Gls2 C A 10: 128,201,347 N252K probably damaging Het
Gm5346 A T 8: 43,626,433 D251E probably benign Het
Ift122 A G 6: 115,884,379 K262E probably benign Het
Islr2 C T 9: 58,198,378 C577Y probably damaging Het
Lrp2 A T 2: 69,443,716 F3997I possibly damaging Het
Nt5c1a C T 4: 123,216,169 R354W probably damaging Het
Olfr776 T A 10: 129,261,335 C125S probably damaging Het
Pcolce A T 5: 137,607,476 S200R probably damaging Het
Plec A G 15: 76,179,297 V2356A possibly damaging Het
Prmt3 T A 7: 49,780,372 D74E probably benign Het
Ptk7 A G 17: 46,565,387 F1046S probably damaging Het
Ranbp2 T C 10: 58,475,300 Y887H possibly damaging Het
Sez6l2 G A 7: 126,961,883 E447K possibly damaging Het
Snrnp70 C T 7: 45,387,236 probably null Het
Timm10 T A 2: 84,829,864 V49E probably damaging Het
Tox2 T C 2: 163,225,466 I35T probably benign Het
Usp20 T A 2: 30,998,789 M1K probably null Het
Usp32 A C 11: 85,059,164 L223V probably damaging Het
Zeb1 T C 18: 5,767,138 S550P probably benign Het
Zeb1 G T 18: 5,767,906 A806S probably damaging Het
Other mutations in Haus2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0003:Haus2 UTSW 2 120618968 splice site probably benign
R4021:Haus2 UTSW 2 120615930 missense probably damaging 1.00
R4717:Haus2 UTSW 2 120619102 missense probably benign 0.00
R4939:Haus2 UTSW 2 120619036 missense probably damaging 1.00
Posted OnNov 11, 2013